Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

American Journal of Medical Genetics, Part A

Volumn 146, Issue 8, 2008, Pages 1026-1031

  Tamayo, Marta L ^a   Gelvez, Nancy ^a   Rodriguez, Marcela ^a   Florez, Silvia ^b   Varon, Clara ^c   Medina, David ^b   Bernal, Jaime E ^a  

^a PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^b Fundacion Oftalmologica Nacional   (Colombia)

^c Research Institute of the Fundacion Oftalmologica de Santander FOSCAL   (Colombia)

Author keywords

Autosomal dominant inheritance; Clinical variability; Deafness; Pigmentary disturbances; Waardenburg syndrome

Indexed keywords

ARTICLE; AUDIOLOGY; CLINICAL CLASSIFICATION; CLINICAL FEATURE; COLOMBIA; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EYE COLOR; FAMILY; FEMALE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HYPOPIGMENTATION; MAJOR CLINICAL STUDY; MALE; MORBIDITY; OPHTHALMOLOGY; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PTOSIS; RELATIVE; SCHOOL CHILD; WAARDENBURG SYNDROME; CHILD; EYE MALFORMATION; GENETICS; MASS SCREENING; METHODOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; SKIN PIGMENTATION;

IRIS SPURIA;

CHILD; COLOMBIA; DEVELOPMENTAL DISABILITIES; EYE ABNORMALITIES; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MASS SCREENING; PHENOTYPE; SKIN PIGMENTATION; WAARDENBURG'S SYNDROME;

EID: 42949087494     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32189     Document Type: Article

References (44)

1. Arias S. 1971. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Art Ser VII:87-101.
2. Arias S, Mota M. 1978. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum. J Genet Hum 26:103-131.
3. Attié T, Till M, Pelet A, Edery P, Bonnet J, Munnich A, Lyonnet S. 1995. Exclusion of RET and Pax3 loci in Waardenburg-Hirschsprung disease. J Med Genet 32:312-313.
4. Baldwin C, Hoth C, Amos J, da-Silva E, Milunsky A. 1992. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355:637-638.
5. Baldwin CT, Hoth CF, Macina RA, Milunsky A. 1995. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature. Am J Med Genet 58:115-122.
6. Bard LA. 1978. Heterogeneity in Waardenburg syndrome. Arch Ophthalmol 96:1193-1198.
7. DiGeorge AM, Olmsted RW, Harley RD. 1960. Waardenburg's syndrome. J Pediatr 57:649-669.
8. Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RMW, Martelli H, Bidaud C, Munnich A, Lyonnet S. 1996. Mutation of the endothelin-3-gene in the Waardenburg-Hirshsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442-444.
9. Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, Greenberg J, Hoth C, Marazita M, Milunsky A, Morell R, Nance W, Newton V, Ramesar R, San Agustin TB, Skare J, Stevens CA, Wagner RG, Wilcox ER, Winship I, Read AP. 1992. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium. Am J Hum Genet 50:902-913.
10. Gelvez N, Rodriguez M, Lattig MC, Tamayo ML. 2002. Estudio epidemiologico del sindrome de Waardenburg en Colombia. Pediatria 37:187-190.
11. Gelvez N, Salvatierra I, Lattig MC, Bernal JE, Plaza SL, Tamayo G, Uribe JL, Tamayo ML. 2004. Waardenburg syndrome in the Providencia island in Colombia: A new mutation of the MITF gene. Bulletin of the meeting: The Molecular Biology of Hearing And Deafness Meeting. USA: Bethesda, M.
12. Gorlin RJ. 1995. Genetic hearing loss with no associated abnormalities. In: Gorlin RJ, Toriello HV, Cohen MM, editors. Hereditary hearing loss and its syndromes. Oxford, USA: Oxford University Press. p 43-61.
13. Hageman MJ, Delleman JW. 1977. Heterogeneity in Waardenburg syndrome. Am J Hum Genet 29:468-485.
14. Ishikiriyama S. 1993. Gene for Waardenburg syndrome type 1 is located at 2q35, not 2q37.3 (letter). Am J Med Genet 46:608.
15. Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N. 1989. A sporadic case of Waardenburg syndrome type 1 associated with de novo inv(2)(q35q37. 3). Cytogenet Cell Genet (Abstract) 51:1018.
16. Klein D. 1950. Albinisme partiel (leucisme) avec surdi-mutile, blemarophimosis et dysplasie myo-osteo-articulaire. Helv Paediat Acta 5:38-58.
17. Kusafuka T, Wang Y, Puri P. 1996. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum Mol Genet 5:347-349.
18. Lalwani AK, Baldwin CT, Morell R, Friedman TB, San Agustin TB, Milunsky A, Adair R, Asher JH, Wilcox ER, Farrer LA. 1994. A locus for Waanderburg syndrome type II maps to chromosome 1p13. 3-2.1. Am J Hum Genet (Abstract) 55:A14 only.
19. Liu XZ, Newton VE, Read AP. 1995. Waardenburg syndrome type 2: Phenotypic findings and diagnostic criteria. Am J Med Genet 55:95-100.
20. Martini A. 1996. Audiometric patterns of genetic hearing loss. Chapter 9. In: Martini A, Read A, Stephens D, editors. Genetics and hearing impairment. San Diego, USA: Singular Publishing Group, Inc. p 92-99.
21. McKusick VA. 1994. Mendelian inheritance in man. Catalogs of autosomal dominant, "Autosomal Recessive and X-Linked phenotypes". Vol. 329, 11th edition. Baltimore: Johns Hopkins University Press. p 585-586.
22. Ommenn GS, McKusick VA. 1979. The association of Waardenburg Síndrome and Hirschprung megacolon. Am J Med Genet 3:271-275.
23. Pardono E, van Bever Y, van den Ende J, Havrenne P, Iuguetti P, Maestrelli S, Costa O, Richieri-Costa A, Frota-Pessoa O, Otto P. 2003. Am J Med Genet Part A 117A:223-235.
24. Partington MW. 1964. Waardenburg's syndrome and heterochromia iridum in a deaf school population. Can Med Assoc J 90:1009-1017.
25. Pierpoint JW, Erikson RP. 1993. Invited editorial: Facts on PAX. Am J Hum Genet 52:451-454.
26. Pingault V, Bondurand N, Kuhlbrodt K, Goerich D, Préhu M, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Clayton J, Read A, Wegner M, Goossens M. 1998. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173.
27. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravarti A. 1994. A missense mutation of the endothelin-B-receptor gene in multigeneic Hirschsprung's disease. Cell 79:1257-1266.
28. Reed WB, Stone VM, Boder E, Ziprkowski L. 1967. Pigmentary disorders in association with congenital deafness. Arch Dermatol 95:176-186.
29. Reynolds JE, Meyer J, Landa B, Stevens C, Arnos K, Israel J, Marazita M, Bodurtha J, Nance W, Diehl S. 1995. Analysis of variability of clinical manifestations in Waardenburg syndrome. Am J Med Genet 57:540-547.
30. Rodriguez M, Gelvez N, Lattig MC, Tamayo ML. 2002. Phenotypical analysis of an affected population with Waardenburg syndrome in Colombia. Am J Hum Genet (Abstract) 71: Abstract 649.
31. Sellars S, Beighton P. 1983. The Waardenburg syndrome in deaf children in Southern Africa. S Afr Med J 63:725-728.
32. Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM. 1981. White forelock, pigmentary disorder of irides, and long segment Hirscsprung disease: Possible variant of Waardenburg syndrome. J Pediatr 99:432-435.
33. Silan F, Zafer C, Onder I. 2006. Waardenburg syndrome in the Turkish deaf population. Genet Couns 17:41-48.
34. Tachinaba M, Perez-Jurado L, Nakayama A, Hodfkinson C, Li X, Schneider M, Miki T, Fex J, Francke U, Arnheiter H. 1994. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet 3:553-557.
35. Tamayo ML, Bernal JE, Tamayo G, Duran C. 1989. La Expedición Humana en las Islas de Providencia y Santa Catalina. Bulletin No. 3 of the "Expedición Humana 1992", October 1989, Colombia: Universidad Javeriana, Bogotá.
36. Tamayo ML, Bernal JE, Tamayo G, Frías JL, Alvira G, Vergara O, Rodríguez V, Uribe JI, Silva JC. 1991. Usher syndrome: Results of a screening program in Colombia. Clin Genet 40:304-311.
37. Tamayo ML, Bernal JE, Tamayo G, Frias JL. 1992. A study of the etiology of deafness in an institutionalized population in Colombia. Am J Med Genet 44:405-408.
38. Tamayo ML, Lattig MC, Tamayo G, Bernal JE. 2000a. Una alta frecuencia de sordera en la isla de Providencia, Colombia. In: Jaime EB, editor. Geografía Humana de Colombia. Variación Biológica y Cultural en Colombia. Instituto Colombiano de Cultura Hispánica, Tomo I. Bogotá, Colombia: Editora Guadalupe Ltda. p 409-421.
39. Tamayo ML, Lattig MC, Rodríguez M, Gelvez N. 2000b. Results of a screening program for Waardenburg syndrome in Colombia. Am J Hum Genet (Abstract) 67:108.
40. Tassabehji M, Read A, Newton V, Harris R, Balling R, Gruss P, Strcahan T. 1992. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636.
41. Tassabehji M, Newton V, Read A. 1994. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251-255.
42. Toriello HV. 1995. Genetic hearing loss associated with integumentary dissorders. In: Gorlin RJ, Toriello HV, Cohen MM, editors. Hereditary hearing loss and its syndromes. Oxford, USA: Oxford University Press. p 368-372.
43. Waardenburg PJ. 1951. A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary of the iris and head hair and with congenital deafness. Am J Hum Genet 3:195-201.
44. Zlotorra J, Lerer I, Bar-David S, Ergaz Z, Abeliovich D. 1995. Homozygosity for Waardenburg syndrome. Am J Hum Genet 56:1173-1178.